Varaico: Literature-Extracted Genetic Variants

ARID1B

881 papers

RefSeq Summary

This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. Th...

Pfam Domains

ARIDaa 1151–1236UCSCARID/BRIGHT DNA binding domain

BAF250_Caa 2023–2278UCSCSWI/SNF-like complex subunit BAF250/Osa

Gene Aliases

HGNC Name

AT-rich interaction domain 1B

HGNC Alias Symbols

KIAA1235; ELD/OSA1; p250R; BAF250b; DAN15; 6A3-5; SMARCF2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001374828.1

p.Y520*

c.1560C>G

Surrounding Variants

1 paper

NM_001374828.1

p.Y520*

c.1560C>A

1 paper

NM_001374828.1

p.S524_P526delFs

c.1571_1578del8

1 paper

NM_001374828.1

p.G517_P530delFs

c.1550_1590del41

1 paper

NM_001374828.1

p.P526S

c.1576C>T

1 paper

NM_001374828.1

p.S527_A541delFs

c.1579_1622del44

1 paper

NM_001374828.1

p.S527fs

c.1579_1580fs

4 papers

NM_001374828.1

p.R514W

c.1540C>T

1 paper

NM_001374828.1

p.S527I

c.1580G>T

2 papers

NM_001374828.1

p.R514insFs

c.1540dupC

1 paper

NM_001374828.1

p.P533ins0

c.1597_1599dupCCG

3 papers

NM_001374828.1

p.A528delFs

c.1584delG

1 paper

NM_001374828.1

p.M513_Y516delFs

c.1538_1547del10